eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	distal arthrogryposis

Disease ID	1704
Disease	distal arthrogryposis
Definition	A form of arthrogryposis primarily affecting the hands and the feet. [HPO:probinson]
Synonym	arthrogryposis, distal distal arthrogryposis syndrome distal arthrogryposis syndrome (disorder)
Orphanet	ORPHANET:97120
DOID	DOID:0050646
UMLS	C0265213
SNOMED-CT	SNOMEDCT_US_2016_09_01:24269006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4621 \| MYH3 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:79) 58 \| ACTA1 \| 2.136 \| DISEASES 375790 \| AGRN \| 1.391 \| DISEASES 51008 \| ASCC1 \| 3.492 \| DISEASES 23299 \| BICD2 \| 2.941 \| DISEASES 53841 \| CDHR5 \| 3.21 \| DISEASES 1123 \| CHN1 \| 1.462 \| DISEASES 1137 \| CHRNA4 \| 1.586 \| DISEASES 1146 \| CHRNG \| 3.703 \| DISEASES 1272 \| CNTN1 \| 2.262 \| DISEASES 26047 \| CNTNAP2 \| 1.29 \| DISEASES 1280 \| COL2A1 \| 1.971 \| DISEASES 144402 \| CPNE8 \| 3.547 \| DISEASES 1465 \| CSRP1 \| 3.184 \| DISEASES 1663 \| DDX11 \| 2.645 \| DISEASES 10301 \| DLEU1 \| 2.486 \| DISEASES 285489 \| DOK7 \| 4.68 \| DISEASES 1798 \| DPAGT1 \| 2.381 \| DISEASES 1847 \| DUSP5 \| 1.378 \| DISEASES 1778 \| DYNC1H1 \| 2.34 \| DISEASES 57222 \| ERGIC1 \| 3.696 \| DISEASES 2138 \| EYA1 \| 2.048 \| DISEASES 2317 \| FLNB \| 1.782 \| DISEASES 27022 \| FOXD3 \| 1.667 \| DISEASES 57165 \| GJC2 \| 2.042 \| DISEASES 342035 \| GLDN \| 2.756 \| DISEASES 23462 \| HEY1 \| 1.559 \| DISEASES 64344 \| HIF3A \| 2.02 \| DISEASES 3339 \| HSPG2 \| 2.359 \| DISEASES 3736 \| KCNA1 \| 1.672 \| DISEASES 55605 \| KIF21A \| 2.002 \| DISEASES 3908 \| LAMA2 \| 1.223 \| DISEASES 9211 \| LGI1 \| 1.13 \| DISEASES 54551 \| MAGEL2 \| 2.207 \| DISEASES 23164 \| MPRIP \| 3.021 \| DISEASES 92399 \| MRRF \| 2.233 \| DISEASES 4534 \| MTM1 \| 1.382 \| DISEASES 4588 \| MUC6 \| 1.033 \| DISEASES 4593 \| MUSK \| 1.974 \| DISEASES 4604 \| MYBPC1 \| 6.139 \| DISEASES 4606 \| MYBPC2 \| 3.612 \| DISEASES 4607 \| MYBPC3 \| 3.181 \| DISEASES 4624 \| MYH6 \| 3.604 \| DISEASES 4625 \| MYH7 \| 2.722 \| DISEASES 4626 \| MYH8 \| 6.107 \| DISEASES 4635 \| MYL4 \| 3.1 \| DISEASES 4671 \| NAIP \| 1.672 \| DISEASES 54820 \| NDE1 \| 2.179 \| DISEASES 4703 \| NEB \| 3.391 \| DISEASES 23114 \| NFASC \| 2.084 \| DISEASES 3164 \| NR4A1 \| 1.22 \| DISEASES 26740 \| OR1J2 \| 4.018 \| DISEASES 5160 \| PDHA1 \| 1.931 \| DISEASES 5203 \| PFDN4 \| 4.55 \| DISEASES 63895 \| PIEZO2 \| 5.266 \| DISEASES 144165 \| PRICKLE1 \| 2.654 \| DISEASES 5573 \| PRKAR1A \| 1.261 \| DISEASES 9770 \| RASSF2 \| 2.289 \| DISEASES 65055 \| REEP1 \| 2.385 \| DISEASES 64221 \| ROBO3 \| 2.233 \| DISEASES 6334 \| SCN8A \| 1.742 \| DISEASES 23443 \| SLC35A3 \| 2.768 \| DISEASES 6663 \| SOX10 \| 1.055 \| DISEASES 10011 \| SRA1 \| 1.665 \| DISEASES 27286 \| SRPX2 \| 2.604 \| DISEASES 23345 \| SYNE1 \| 1.856 \| DISEASES 7125 \| TNNC2 \| 4.474 \| DISEASES 7135 \| TNNI1 \| 2.815 \| DISEASES 7138 \| TNNT1 \| 2.027 \| DISEASES 7169 \| TPM2 \| 6.387 \| DISEASES 7170 \| TPM3 \| 3.181 \| DISEASES 84676 \| TRIM63 \| 1.572 \| DISEASES 51807 \| TUBA8 \| 3.568 \| DISEASES 10381 \| TUBB3 \| 1.252 \| DISEASES 63894 \| VIPAS39 \| 2.904 \| DISEASES 26276 \| VPS33B \| 3.391 \| DISEASES 9278 \| ZBTB22 \| 1.736 \| DISEASES 100128927 \| ZBTB42 \| 4.665 \| DISEASES 55906 \| ZC4H2 \| 3.191 \| DISEASES 23567 \| ZNF346 \| 3.338 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1704
Disease	distal arthrogryposis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1704
Disease	distal arthrogryposis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1837245 \| carney complex variant
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853305	20457903	7169	TPM2	umls:C0265213	BeFree	Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis.	0.002985861	2010	TPM2	9	35685529	G	A
rs387906657	23657818	4604	MYBPC1	umls:C0265213	BeFree	Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disorder.	0.000814326	2013	MYBPC1	12	101642459	T	C
rs387906658	23657818	4604	MYBPC1	umls:C0265213	BeFree	Two missense mutations in the NH2 terminus (W236R) and COOH terminus (Y856H) of sMyBP-C have been causally linked to the development of distal arthrogryposis-1 (DA-1), a severe skeletal muscle disorder.	0.000814326	2013	MYBPC1	12	101670362	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1704
Disease	distal arthrogryposis
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter